McBride KL - Search Results

1

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Hanchard NA, et al. Among authors: mcbride kl. Am J Med Genet A. 2017 Aug;173(8):2176-2188. doi: 10.1002/ajmg.a.38309. Epub 2017 Jun 27. Am J Med Genet A. 2017. PMID: 28653806 Free PMC article.

2

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Lalani SR, et al. Among authors: mcbride kl. Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002. Am J Med Genet A. 2003. PMID: 12673657

3

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.

Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW. Lewin MB, et al. Among authors: mcbride kl. Pediatrics. 2004 Sep;114(3):691-6. doi: 10.1542/peds.2003-0782-L. Pediatrics. 2004. PMID: 15342840 Free PMC article.

4

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.

McBride KL, Fernbach S, Menesses A, Molinari L, Quay E, Pignatelli R, Towbin JA, Belmont JW. McBride KL, et al. Birth Defects Res A Clin Mol Teratol. 2004 Oct;70(10):825-30. doi: 10.1002/bdra.20049. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 15390319

5

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. McBride KL, et al. Am J Med Genet A. 2005 Apr 15;134A(2):180-6. doi: 10.1002/ajmg.a.30602. Am J Med Genet A. 2005. PMID: 15690347 Free PMC article.

6

Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001.

McBride KL, Marengo L, Canfield M, Langlois P, Fixler D, Belmont JW. McBride KL, et al. Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):555-61. doi: 10.1002/bdra.20169. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16007587 Free PMC article.

7

Heritability of plasma amino acid levels in different nutritional states.

McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. McBride KL, et al. Mol Genet Metab. 2007 Feb;90(2):217-20. doi: 10.1016/j.ymgme.2006.08.010. Epub 2006 Sep 26. Mol Genet Metab. 2007. PMID: 17005426

8

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE. McBride KL, et al. Hum Mol Genet. 2008 Sep 15;17(18):2886-93. doi: 10.1093/hmg/ddn187. Epub 2008 Jun 30. Hum Mol Genet. 2008. PMID: 18593716 Free PMC article.

9

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. McBride KL, et al. Eur J Hum Genet. 2009 Jun;17(6):811-9. doi: 10.1038/ejhg.2008.255. Epub 2009 Jan 14. Eur J Hum Genet. 2009. PMID: 19142209 Free PMC article.

10

Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.

Fitzgerald-Butt SM, Byrne L, Gerhardt CA, Vannatta K, Hoffman TM, McBride KL. Fitzgerald-Butt SM, et al. Among authors: mcbride kl. Pediatr Cardiol. 2010 Feb;31(2):195-202. doi: 10.1007/s00246-009-9583-2. Epub 2009 Dec 1. Pediatr Cardiol. 2010. PMID: 19949785

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